Source: BEFREE ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17235409
rs17235409
SLC11A1
30 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs2237051
rs2237051
EGF
3 0.925 0.120 4 109980042 missense variant G/A snv 0.46 0.53 0.010 1.000 1 2018 2018
dbSNP: rs28940578
rs28940578
MEFV
14 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.010 1.000 1 2008 2008
dbSNP: rs61752717
rs61752717
MEFV
54 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2015 2015